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mosaic trisomy 4

^ http://purl.obolibrary.org/obo/MONDO_0019865


Mosaic Trisomy 4 is a rare autosomal anomaly, due to the presence of an extra copy of chromosome 4 in a fraction of all cells, with a variable phenotype characterized by intrauterine growth retardation, low birth weight/length/OFC, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysmorphic features (asymmetry of the face, eyebrow anomalies, low-set, posteriorally rotated, dysplastic ears, micro-/retrognathia), characteristic thumb abnormalities (aplasia, hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated. [ Orphanet:96059 ]

Term info

database cross reference
  • Orphanet:96059 (MONDO:equivalentTo)
  • SCTID:764628000 (MONDO:equivalentTo)
Subsets

ordo_malformation_syndrome

definition

Mosaic Trisomy 4 is a rare autosomal anomaly, due to the presence of an extra copy of chromosome 4 in a fraction of all cells, with a variable phenotype characterized by intrauterine growth retardation, low birth weight/length/OFC, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysmorphic features (asymmetry of the face, eyebrow anomalies, low-set, posteriorally rotated, dysplastic ears, micro-/retrognathia), characteristic thumb abnormalities (aplasia, hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_96059, http://identifiers.org/snomedct/764628000

has exact synonym

Mosaic trisomy type 4, trisomy 4 mosaicism, Mosaic trisomy chromosome 4

id

MONDO:0019865

Term relations